DOWN SYNDROME
Jérôme Lejeune identified Down
What is down syndrome?
 Typically, the nucleus of each cell
contains 23 pairs of chromosomes,
half of which are inherited from each
parent. Down syndrome occurs
when an individual has a full or
partial extra copy of chromosome
21.
 A few of the common physical traits
of Down syndrome are low muscle
tone, small stature, an upward
slant to the eyes, and a single
deep crease across the center of
the palm
 although each person with Down
syndrome is a unique individual and
may possess these characteristics to
different degrees, or not at all.
How common is down syndrome?
 The estimated incidence of down
syndrome is between 1 in 1,000 to 1
in 1,100 live births worldwide. Each
year approximately 3,000 to 5,000
children are born with this
chromosome disorder
 According to the Down Syndrome
Association of the Philippines, Inc.
(DSAPI), one in every 800 Filipino
babies has Down Syndrome—and
with 1.5 million live births, this
makes up about 1,875 new cases in
the country. In fact, more than
100,000 Filipino families are living
with a person with Down Syndrome.
- is the least common form of Down
When was Down Syndrome discovered?
 late nineteenth century, however,
that John Langdon Down, an
English physician, published an
accurate description of a person with
Down syndrome. It was this
scholarly work, published in 1866,
that earned Down the recognition as
the “father” of the syndrome.
 In 1959, the French physician
syndrome as a chromosomal
condition. Instead of the usual 46
chromosomes present in each cell,
Lejeune observed 47 in the cells of
individuals with Down syndrome.
 In the year 2000, an international
team of scientists successfully
identified and catalogued each of the
approximately 329 genes on
chromosome 21. This
accomplishment opened the door to
great advances in Down syndrome
research.
What are the types of DS?
 Trisonomy 21 - Down syndrome is
usually caused by an error in cell
division called “nondisjunction.”
Nondisjunction results in an embryo
with three copies of chromosome
21 instead of the usual two.
- Prior to or at conception, a pair of
21st chromosomes in either the
sperm or the egg fails to separate.
As the embryo develops, the extra
chromosome is replicated in every
cell of the body. This type of Down
syndrome, which accounts for 95%
of cases, is called trisomy 21.
 Mosaicism - Mosaicism (or mosaic
Down syndrome) is diagnosed when
there is a mixture of two types of
cells, some containing the usual
46 chromosomes and some
containing 47. Those cells with 47
chromosomes contain an extra
chromosome 21.
syndrome and accounts for only about
1% of all cases of Down syndrome.
Research has indicated that individuals
with mosaic Down syndrome may
have fewer characteristics of Down
syndrome than those with other types
of Down syndrome. However, broad
generalizations are not possible due to
the wide range of abilities people with
Down syndrome possess.
 Translocation -which accounts for
about 4% of cases of Down
syndrome, the total number of
chromosomes in the cells
remains 46; however, an
additional full or partial copy of
chromosome 21 attaches to
another chromosome, usually
chromosome 14. The presence of
the extra full or partial chromosome
21 causes the characteristics of
Down syndrome.
What causes Down Syndrome?
- The cause of the extra full or
partial chromosome is still
unknown. Maternal age is the
only factor that has been
linked to an increased chance
of having a baby with Down
syndrome resulting from
nondisjunction or mosaicism.
However, due to higher birth
rates in younger women, 80% of
children with Down syndrome
are born to women under 35
years of age.
- The additional partial or full copy
of the 21st chromosome which
causes Down syndrome can
originate from either the father or
the mother. Approximately 5%
of the cases have been traced
to the father.
Does Down Syndrome run in
families?
- only 1% of all cases of Down
syndrome have a hereditary
component (passed from parent
to child through the genes).
Heredity is not a factor in trisomy
21 (nondisjunction) and
mosaicism. However, in one-
third of cases of Down syndrome
resulting from translocation there
is a hereditary component –
accounting for about 1% of all
cases of Down syndrome.
How is Down Syndrome Diagnosed?
- Prenatally- screening tests and
diagnostic tests. Prenatal
screens estimate the chance of
the fetus having Down
syndrome. These tests do not
tell you for sure whether your
fetus has Down syndrome; they
only provide a probability.
Diagnostic tests, on the other
hand, can provide a definitive
diagnosis with almost 100%
accuracy.
- Most screening tests involve a
blood test and an ultrasound
(sonogram). The blood tests (or
serum screening tests) measure
quantities of various substances
in the blood of the mother.
Together with a woman’s age,
these are used to estimate her
chance of having a child with
Down syndrome. These blood
tests are often performed in
conjunction with a detailed
sonogram to check for “markers”
(characteristics that some
researchers feel may have a
significant association with Down
syndrome).
- At birth- features may be
present in babies without Down
syndrome, a chromosomal
analysis called a karyotype is
done to confirm the diagnosis.
To obtain a karyotype, doctors
draw a blood sample to examine
the baby’s cells. They
photograph the chromosomes
and then group them by size,
number, and shape. By
examining the karyotype, doctors
can diagnose Down syndrome.
Another genetic test called FISH
can apply similar principles and
confirm a diagnosis in a shorter
amount of time.